Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Maryse Bonnière"'
Autor:
Jennifer F. Gardner, Thomas D. Cushion, Georgios Niotakis, Heather E. Olson, P. Ellen Grant, Richard H. Scott, Neil Stoodley, Julie S. Cohen, Sakkubai Naidu, Tania Attie-Bitach, Maryse Bonnières, Lucile Boutaud, Férechté Encha-Razavi, Sheila M. Palmer-Smith, Hood Mugalaasi, Jonathan G. L. Mullins, Daniela T. Pilz, Andrew E. Fry
Publikováno v:
Brain Sciences, Vol 8, Iss 8, p 145 (2018)
The TUBA1A gene encodes tubulin alpha-1A, a protein that is highly expressed in the fetal brain. Alpha- and beta-tubulin subunits form dimers, which then co-assemble into microtubule polymers: dynamic, scaffold-like structures that perform key functi
Externí odkaz:
https://doaj.org/article/9b32537b1afc4d558b6ef3e1937522ca
Autor:
Eva Kohaut, Flavie Ader, Caroline Rooryck, Fanny Pelluard, Maryse Bonnière, Gwenaelle André, Fanny Sauvestre, Philippe Roth, Diala Khraiche, Bettina Bessières, Tania Attié‐Bitach, Pascale Richard
Publikováno v:
Clinical Genetics.
Autor:
Damien Bonnet, Valérie Cormier-Daire, Briac Thierry, Zagorka Pejin, Caroline Michot, Christophe Delacourt, Maryse Bonnière, Muriel Le Bourgeois, Pauline Marzin, Gilles Phan, Sophie Rondeau, Andrea Dancasius, Diala Khraiche, Geneviève Baujat, Anne Cavau
Publikováno v:
Genetics in Medicine. 23:331-340
Purpose Geleophysic dysplasia (GD) and acromicric dysplasia (AD) are characterized by short stature, short extremities, and progressive joint limitation. In GD, cardiorespiratory involvement can result in poor prognosis. Dominant variants in the FBN1
Autor:
Cécile Masson, Arnaud Molin, Clarisse Billon, Agnès Liard, Lucile Boutaud, Sabine Sigaudy, Sophie Thomas, Eglantine Magnin, Radia Fritih, Valérie Layet, Maryse Bonnière, Yves Ville, Alix Clemenson, Alain Diguet, Philippe Roth, Coralie Dauge, Sophie Patrier, John Rendu, Julia Tantau, Bettina Bessières, Alice Goldenberg, Leila Hakkakian, Céline Poirsier, Tania Attié-Bitach, Ferechté Razavi, Clémence Fleury, Eric Verspyck, Nadia Elkhartoufi, Maude Grelet, Amale Achaiaa, Fabienne Prieur, Christine Bole-Feysot, Aude Tessier
Publikováno v:
Clinical Genetics. 98:261-273
Megacystis-microcolon-intestinal-hypoperistalsis syndrome (MMIHS) is a severe congenital visceral myopathy characterized by an abdominal distension due to a large non-obstructed urinary bladder, a microcolon and intestinal hypo- or aperistalsis. Most
Autor:
Tania Attié-Bitach, Sarah Baer, Jamel Chelly, Romain Favre, Ferechté Razavi, Pauline Le Van Quyen, Nadège Calmels, Suzanne Chartier, Vincent Laugel, Salima El Chehadeh, Cathy Obringer, Séverine Bacrot, Maryse Bonnière, Lucile Boutaud, Maria Cristina Antal
Publikováno v:
American Journal of Medical Genetics Part A. 182:1236-1242
Cerebro-oculo-facio-skeletal syndrome (COFS) is a rare autosomal recessive neurodegenerative disease belonging to the family of DNA repair disorders, characterized by microcephaly, congenital cataracts, facial dysmorphism and arthrogryposis. Here, we
Autor:
Maryse Bonnière, Philippe Roth, Michel Vekemans, Frédéric Brioude, Delphine Héron, Bettina Bessières, Aurélie Beaufrère, Irène Netchine, Julia Tantau, Antoinette Gelot, Elodie Schaerer, Ferechté Razavi, Tania Attié-Bitach
Publikováno v:
Fetal and Pediatric Pathology. 37:411-417
Beckwith-Wiedemann syndrome (BWS) is the most common overgrowth syndrome. Clinical features are highly variable, including occasional posterior fossa malformations but no femoral shortening.We report two fetuses with BWS associated with short femurs
Autor:
Brigitte Leroy, Homa Adle-Biassette, Frédéric Causeret, Houria Salhi, Jelena Martinovic, Bettina Bessières, Selima Ben Miled, Férechté Encha-Razavi, Yoann Saillour, Julie Bruneau, Syril James, Jean-Paul Duong Van Huyen, Laurence Loeuillet, Julien Stirnemann, Maryse Bonnière-Darcy, Amel Sekour, Yves Ville, Aude Tessier, Tania Attié-Bitach, Julia Tantau
Publikováno v:
American Journal of Obstetrics and Gynecology
American Journal of Obstetrics and Gynecology, 2020, 223, pp.256.e1-256.e9. ⟨10.1016/j.ajog.2020.02.052⟩
American Journal of Obstetrics and Gynecology, Elsevier, 2020, 223, pp.256.e1-256.e9. ⟨10.1016/j.ajog.2020.02.052⟩
American Journal of Obstetrics and Gynecology, 2020, 223, pp.256.e1-256.e9. ⟨10.1016/j.ajog.2020.02.052⟩
American Journal of Obstetrics and Gynecology, Elsevier, 2020, 223, pp.256.e1-256.e9. ⟨10.1016/j.ajog.2020.02.052⟩
International audience; Background: Despite undisputable benefits, midtrimester prenatal surgery is not a cure for myelomeningocele (MMC): residual intracranial and motor deficits leading to lifelong handicap question the timing of prenatal surgery.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d88cfe29c8313ae4f6919f00a2d58a4
https://hal.science/hal-03492427
https://hal.science/hal-03492427
Autor:
Pauline, Marzin, Briac, Thierry, Andrea, Dancasius, Anne, Cavau, Caroline, Michot, Sophie, Rondeau, Geneviève, Baujat, Gilles, Phan, Maryse, Bonnière, Muriel, Le Bourgeois, Diala, Khraiche, Zagorka, Pejin, Damien, Bonnet, Christophe, Delacourt, Valérie, Cormier-Daire
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(2)
Geleophysic dysplasia (GD) and acromicric dysplasia (AD) are characterized by short stature, short extremities, and progressive joint limitation. In GD, cardiorespiratory involvement can result in poor prognosis. Dominant variants in the FBN1 and LTB
Autor:
Marc Thiry, Christian Alfano, Férechté Encha-Razavi, Marine Driessen, Tania Attié-Bitach, Michel Vekemans, Marianne Leruez-Ville, Laurent Nguyen, Yves Ville, Thérèse Couderc, Marc Lecuit, Aurélie Beaufrère, Nicolas Thelen, Maryse Bonnière, Bettina Bessières
Publikováno v:
Brain Pathology
Brain Pathology, 2019, 29 (1), pp.114-125. ⟨10.1111/bpa.12644⟩
Brain Pathology, Wiley, 2019, 29 (1), pp.114-125. ⟨10.1111/bpa.12644⟩
Brain Pathol
Brain Pathology, 2019, 29 (1), pp.114-125. ⟨10.1111/bpa.12644⟩
Brain Pathology, Wiley, 2019, 29 (1), pp.114-125. ⟨10.1111/bpa.12644⟩
Brain Pathol
International audience; Background: The recent outbreak of Zika virus (ZIKV) infection and the associated increased prevalence of microcephaly in Brazil underline the impact of viral infections on embryo-fetal development. The aim of the present stud
Autor:
Simon Boussion, Sandra Whalen, Tania Attié-Bitach, Pierre-Simon Jouk, Dominique Carles, Sarah Grotto, Fabienne Escande, Florence Petit, Anne Bazin, Fanny Pelluard, Sylvie Manouvrier-Hanu, Louise Devisme, Perrine Brunelle, Yves Alembik, Céline Duhamel, Jamal Ghoumid, Thomas Smol, Charlotte Mechler, Alice Goldenberg, Laurence Loeuillet, Maryse Bonnière, Geneviève Baujat, Caroline Michot, Cyril Goizet, Philippe Carassou, Anne-Sophie Jourdain, Agnès Guichet, Audrey Putoux
Publikováno v:
Human mutationREFERENCES. 41(7)
Thrombocytopenia-absent radius (TAR) syndrome is characterized by radial defect and neonatal thrombocytopenia. It is caused by biallelic variants of RBM8A gene (1q21.1) with the association of a null allele and a hypomorphic noncoding variant. RBM8A